A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712871



Internal ID16006827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43871718..43879620hg38UCSC Ensembl
Innerchr1:44337390..44345292hg19UCSC Ensembl
Innerchr1:44109977..44117879hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg387903
hg197903
hg187903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546138
Supporting Variants
Samples
Known GenesST3GAL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712871
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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